Canonical Allele Identifier: CA633718636
Gene:

Linked Data

dbSNP Id: rs1409020259

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837356del , CM000681.2:g.50837356del GRCh38
NC_000019.9:g.51340612del , CM000681.1:g.51340612del GRCh37
NC_000019.8:g.56032424del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+6063del
NR_131205.1:n.230+6063del
XR_936030.1:n.298+6063del
XR_936031.1:n.298+6063del
XR_936032.1:n.298+6063del
XR_936033.1:n.294+6063del
XR_936035.1:n.281+6063del